Gene Variant Detail

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Gene FGFR1
Variant D133dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions FGFR1 D133dup indicates the insertion of the duplicate amino acid, aspartic acid (D)-133, in the extracellular domain of the Fgfr1 protein (UniProt.org). D133dup has been identified in sequencing studies (PMID: 37664946), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 D133dup

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Transcript NM_023110.3
gDNA chr8:g.38428395_38428397
cDNA c.397_399
Protein p.D133
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.2 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
XM_047421574.1 chr8:g.38426195_38426197 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
XM_006716314.3 chr8:g.38426195_38426197 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_001354368.2 chr8:g.38426195_38426197 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38426195_38426197 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
NM_001354370.2 chr8:g.38426195_38426197 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38428395_38428397 c.397_399 p.D133 RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38428395_38428397 c.397_399 p.D133dup RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
FGFR1 D133dup unknown